| syndroom van ernstige verstandelijke beperking, agenesie van corpus callosum, faciale dysmorfie en cerebellaire ataxie (aandoening) | | syndroom van ernstige verstandelijke beperking, agenesie van corpus callosum, faciale dysmorfie en cerebellaire ataxie | | syndroom van ernstige verstandelijke handicap, afwezigheid van corpus callosum, dysmorfie van aangezicht en cerebellaire ataxie
| | Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome | | A rare genetic neurological disorder with characteristics of congenital microcephaly, severe intellectual disability, hypertonia at birth lessening with age, ataxia and specific dysmorphic facial features including hirsutism, low anterior hairline and bitemporal narrowing arched thick and medially sparse eyebrows, long eyelashes, lateral upper eyelids swelling and a skin fold partially covering the inferior eyelids, low-set posteriorly rotated protruding ears, anteverted nares and a full lower lip. Brain imaging shows partial to almost complete agenesis of the corpus callosum and variable degrees of cerebellar hypoplasia. Caused by homozygous mutation in the FRMD4A gene on chromosome 10p13. |
| | Id | 1208727002 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 466688 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.0 | | Rule | TRUE | | Advice | ALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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